title: Exon 6 skipping in the Fanconi anemia C gene associated with a nonsense/missense mutation (775C-->T) in exon 5: the first example of a nonsense mutation in one exon causing skipping of another downstream.
authors.affiliation: Department of Human Genetics, Free University of Amsterdam, The Netherlands.
authors.forename: J R
authors.initials: JR
authors.lastname: Lo Ten Foe
authors.forename: F A
authors.initials: FA
authors.lastname: Kruyt
authors.forename: M B
authors.initials: MB
authors.lastname: Zweekhorst
authors.forename: G
authors.initials: G
authors.lastname: Pals
authors.forename: R A
authors.initials: RA
authors.lastname: Gibson
authors.forename: C G
authors.initials: CG
authors.lastname: Mathew
authors.forename: H
authors.initials: H
authors.lastname: Joenje
authors.forename: F
authors.initials: F
authors.lastname: Arwert
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics; D005091:Exons / Q000235:genetics*; D005199:Fanconi Anemia / Q000235:genetics*; D005260:Female; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D017354:Point Mutation
chemical_list: D018076:DNA, Complementary; D004247:DNA